LABORATORY OF GENETICS AND GENOMICS Mailing Address: For local courier service and/or inquiries, please contact 513-636-4474 • Fax: 513-636-4373 3333 Burnet Avenue, Room R1042 www.cincinnatichildrens.org/moleculargenetics • Email: [email protected] Cincinnati, OH 45229 CARDIOVASCULAR DISEASES TESTING REQUISITION All Information Must Be Completed Before Sample Can Be Processed PATIENT INFORMATION ETHNIC/RACIAL BACKGROUND (Choose All)

Patient Name: ______, ______,______ European American (White)  African-American (Black) Last First MI  Native American or Alaskan  Asian-American Address: _______ Pacific Islander  Ashkenazi Jewish ancestry ______ Latino-Hispanic ______Home Phone: ______(specify country/region of origin) MR# ______Date of Birth ______/ ______/______ Other ______(specify country/region of origin) Gender:  Male  Female

BILLING INFORMATION (Choose ONE method of payment)

o REFERRING INSTITUTION o COMMERCIAL INSURANCE* Insurance can only be billed if requested at the time of service. Institution: ______Policy Holder Name: ______Address: ______Gender: ______Date of Birth ______/ ______/ ______City/State/Zip: ______Authorization Number: ______Accounts Payable Contact Name: ______Insurance ID Number: ______Phone: ______Insurance Name: ______Fax: ______Insurance Address: ______

Email: ______City/State/Zip: ______

Insurance Phone Number: ______

* PLEASE NOTE: • We will not bill Medicaid, Medicaid HMO, or Medicare except for the following: CCHMC Patients, CCHMC Providers, or Designated Regional Counties. • If you have questions, please call 1-866-450-4198 for complete details.

SAMPLE/SPECIMEN INFORMATION REFERRING PHYSICIAN

Has patient received a bone marrow transplant?  Yes  No Physician Name (print): ______Note: For post-transplant patients, we accept pre-transplant samples or post- Address: ______transplant skin fibroblastsONLY (blood, saliva, and cytobrushes are not accepted). Culturing of skin fibroblasts is done at an additional charge. Phone: ( ______) ______Fax: ( ______) ______

SPECIMEN TYPE:**  Amniotic fluid  Blood  Cord blood  DNA  CVS Email: ______ Saliva  Tissue (specify): ______Specimen Date: ______/ ______/ ______Time: ______Genetic Counselor/Lab Contact Name: ______Specimen Amount: ______Phone: ( ______) ______Fax: ( ______) ______Each test requires 3 mL of whole blood in EDTA tube. Please call before sending Email: ______alternate tissue samples, and for free cytobrush or saliva collection kits. DRAWN BY: ______*Phlebotomist must initial tube of specimen to confirm sample identity ______Date: ____/ _____/ _____ **If prenatal, maternal blood is required for maternal cell contamination. Referring Physician Signature (REQUIRED) Maternal Blood Collection Date: ____ / _____ / _____ Time: ______

 Patient signed completed ABN Medical Necessity Regulations: At the government’s request, the Laboratory of Genetics and Genomics would like to remind all physicians that when ordering tests that will be paid under federal health care programs, including Medicare and Medicaid programs, that these programs will pay only for those tests the relevant program deems to be (1) included as covered services, (2) reasonable, (3) medically necessary for the treatment and diagnosis of the patient, and (4) not for screening purposes. Patient Name: ______Date of Birth: ______

INDICATIONS/DIAGNOSIS/ICD-10 CODE PEDIGREE OR FAMILY HISTORY

Reason for Testing: Parental Consanguinity o Y o N o Suspected diagnosis: ______o Carrier (Heterozygote) testing o Presymptomatic diagnosis of at-risk sibling o Family history of disease: ______

CLINICAL FEATURES (CHECK ALL THAT APPLY)

Please attach detailed medical records, clinical summary, pictures and family history. Clinical history is crucial for accurate interpretation of results. o Absent sinoatrial node o Levocardia o Aortic arch abnormality o Levo-transposition of the great arteries (l-TGA) o Aortic coarctation o Mesocardia o Aortic dilation o Mitral annulus calcification (age <40) o Aortic dissection o Mitral stenosis o Aortic stenosis o Mitral valve prolapse o Arrhythmia o Prolonged QT interval: ______msec o Arterial aneurysm or tortuosity o Partial anomalous pulmonary venous return (PAPVR) o Asymmetric septal hypertrophy o Patent ductus arteriosus o Atrial arrhythmias o Pulmonary artery dilation o Atrial enlargement o Pulmonary hypertension o Atrial fibrillation o Pulmonary stenosis (PS) o Atrial isomerism o Pulmonic atresia o Atrial septal defect (ASD) o Reduced ejection fraction/endocardial shortening fraction o AV block o Restrictive Cardiomyopathy (RCM) o AV canal o Right ventricular dilation o Bicuspid aortic valve o Short QT interval o Brugada syndrome o Single ventricle o Cardiac arrest o Situs anomalies o Catecholaminergic polymorphic ventricular tachycardia (CPVT) o Subpulmonic stenosis o Concentric hypertrophy o Superior vena cava (SVC) abnormality o Congenital heart disease o Tetralogy of Fallot o Dextrocardia o Total anomalous pulmonary venous return (TAPVR) o Dextro-transposition of the rreat arteries (d-TGA) o Ventricular arrhythmias o Dilated cardiomyopathy (DCM) o Ventricular dysfunction o Double outlet right ventricle (DORV) o Ventricular enlargement/dilation o Fatty infiltration of the myocardium o Ventricular septal defect (VSD) o Hypertrophic cardiomyopathy (HCM) o Other(s): ______o Inferior vena cava (IVC) abnormality ______o Left ventricular non-compaction cardiomyopathy (LVNC) Patient Name: ______Date of Birth: ______

TEST(S) REQUESTED

Arrythmia Panels Connective Tissue Disorders Panels  Comprehensive Arrhythmia Panel (81 )  Thoracic Aortic Aneurysm Panel (49 genes) (ABCC9, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, (ABL1, ACTA2, ADAMTS10, ADAMTS2, ADAMTSL4, ALDH18A1, BGN, CBS, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CPT1A, CTNNA3, CHST14, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, EFEMP2, DES, DSC2, DSG2, DSP, EMD, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GATA5, LOX, LTBP3, GPD1L, GYG1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ3, LDB3, LMNA, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TAB2, TGFB2, MYH6, MYH7, MYL4, NKX2-5, NOS1AP, NPPA, NUP155, PDLIM3, PKP2, PLN, TGFB3, TGFBR1, TGFBR2, TGFBR3, TNXB, ZNF469) PPA2, PRKAG2, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, o Reflex to deletion/duplication of all available genes on panel* SCN4B, SCN5A, SLC25A20, SLMAP, SNTA1, TBX5, TECRL, TGFB3, TMEM43, o Reflex to deletion/duplication of single (s) (specify):______TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN) ______o Reflex to deletion/duplication of all available genes on panel*  Marfan Syndrome and MFS Related Disorders Panel (3 genes) o Reflex to deletion/duplication of single gene(s) (specify):______(FBN1, TGFBR1, TGFBR2) ______o Reflex to deletion/duplication of all available genes on panel* o Reflex to deletion/duplication of single gene(s) (specify):______o Atrial Fibrillation (A Fib) Panel (28 genes) ______(ABCC9, CACNB2, GATA4, GATA6, GJA5, HCN4, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, NPPA, Cardiomyopathy Panels NUP155, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5) Comprehensive Cardiomyopathy Panel (135 genes) o Reflex to deletion/duplication of all available genes on panel* (AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, o Reflex to deletion/duplication of single gene(s) (specify):______ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, ______CAVIN4, CBL, CDH2, CHRM2, COX15, CPT2, CRYAB, CSRP3, CTNNA3, Atrioventricular Block (AV Block) Panel (7 genes) DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EPG5, EYA4, (DES, EMD, LMNA, NKX2-5, SCN1B, SCN5A, TRPM4) FBXO32, FHL1, FHL2, FKRP, FKTN, FLNC, FXN, GAA, GATA4, GATA6, o Reflex to deletion/duplication of all available genes on panel* GATAD1, GBE1, GLA, GLB1, HAND1, HCN4, HRAS, ILK, JPH2, JUP, KRAS, o Reflex to deletion/duplication of single gene(s) (specify):______LAMA4, LAMP2, LDB3, LMNA, LRRC10, LZTR1, MAP2K1, MAP2K2, MIB1, ______MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NEBL, NEXN, NF1, NKX2-5, NPPA, NRAS, PCCA, o Brugada Syndrome Panel (21 genes) PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPP1CB, PRDM16, PRKAG2, PSEN1, (ABCC9, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCND3, PSEN2, PTPN11, RAF1, RBM20, RIT1, RMND1, RYR2, SCN5A, SCO2, SDHA, KCNE1L, KCNE3, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SGCD, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPEG, SPRED1, SURF1, SCN2B,SCN3B, SCN5A,SLMAP,TRPM4) SYNE2, TAB2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TMPO, TNNC1, o Reflex to deletion/duplication of all available genes on panel* TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TTN, TTR, TXNRD2, VCL) o Reflex to deletion/duplication of single gene(s) (specify):______o Reflex to deletion/duplication of all available genes on panel* ______o Reflex to deletion/duplication of single gene(s) (specify):______Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel (11 genes) ______(ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, KCNQ1, RYR2, SCN5A,  Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel (18 genes) TECRL, TRDN) (CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, MYH7, o Reflex to deletion/duplication of all available genes on panel* PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN) o Reflex to deletion/duplication of single gene(s) (specify):______o Reflex to deletion/duplication of all available genes on panel* ______o Reflex to deletion/duplication of single gene(s) (specify):______Long QT Syndrome Panel (19 genes)  Dilated Cardiomyopathy (DCM) Panel (73 genes) (AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, (ABCC9, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, BAG3, CAV3, CHRM2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN4B, SCN5A, SNTA1, TECRL, TRDN) CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, o Reflex to deletion/duplication of all available genes on panel* FHL2, FKRP, FKTN, FLNC, GATA6, GATAD1, GLA, HCN4, ILK, JPH2, JUP, o Reflex to deletion/duplication of single gene(s) (specify):______LAMA4, LAMP2, LDB3, LMNA, LRRC10, MIB1, MYBPC3, MYH6, MYH7, MYL2, ______MYL3, MYPN, NEBL, NEXN, NKX2-5, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, Short QT Syndrome Panel (6 genes) PTPN11, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, SPEG, TAZ, TBX20, (CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1) TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, o Reflex to deletion/duplication of all available genes on panel* TXNRD2, VCL) o Reflex to deletion/duplication of single gene(s) (specify):______o Reflex to deletion/duplication of all available genes on panel* ______o Reflex to deletion/duplication of single gene(s) (specify):______

†See page 5 for additional deletion/duplication information Patient Name: ______Date of Birth: ______

TEST(S) REQUESTED, CONTINUED

 Hypertrophic Cardiomyopathy (HCM) Panel (98 genes) o Heterotaxy Panel (114 genes) (AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, (ACTC1, ACVR2B, AK7, ALMS1, ANKS6, ARMC4, BBS1, BBS10, BBS2, ALPK3, ANKRD1, BAG3, BRAF, CACNA1C, CALR3, CAV3, CBL, COX15, CPT2, BCL9L, BCOR, BRAF, C21ORF59, CBL, CCDC103, CCDC11, CCDC114, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EPG5, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP300, CHD7, FHL1, FKTN, FLNC, FXN, GAA, GATA4, GATAD1, GLA, HRAS, ILK, JPH2, JUP, CRELD1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, KRAS, LAMA4, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MTO1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, ELN, EVC, EVC2, FOXF1, FOXH1, GAS2L2, GAS8, GATA4, GATA6, GDF1, MYPN, NDUFAF2, NEBL, NEXN, NF1, NRAS, PDLIM3, PKP2, PLN, PPP1CB, GJA1, GPC3, HES7, HRAS, HYDIN, INVS, JAG1, KIF7, KRAS, LEFTY2, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SCO2, SDHA, SGCD, LMNA, LRRC56, LRRC6, MAP2K1, MAP2K2, MCIDAS, MED13L, MEGF8, SHOC2, SLC22A5, SLC25A4, SOS1, SOS2, SPRED1, SURF1, TAZ, TCAP, MEIS2, MKS1, MMP21, MRE11, NAT10, NEK8, NF1, NKX2-5, NKX2-6, NME8, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL) NODAL, NOTCH1, NOTCH2, NPHP3, NR2F2, NRAS, NSD1, OFD1, PIH1D3, o Reflex to deletion/duplication of all available genes on panel* PKD1L1, PKD2, PQBP1, PRRX1, PTPN11, RAF1, RIT1, RSPH1, RSPH3, RSPH4A, o Reflex to deletion/duplication of single gene(s) (specify):______RSPH9, SCN5A, SHOC2, SHROOM3, SMAD2, SOS1, SPAG1, TBX1, TBX5, ______TCTN2, TTC25, UBR1, WDR35, ZIC3, ZMPSTE24, ZMYND10)  Left Ventricular Noncompaction (LVNC) Panel (36 genes) o Reflex to deletion/duplication of all available genes on panel* o (ABCC9, ACTC1, ACTN2, BAG3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, Reflex to deletion/duplication of single gene(s) (specify):______DTNA, EMD, FBXO32, FLNC, HCN4, JPH2, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, PKP2, PLEKHM2, PLN, RAF1, RBM20, RYR2, SCN5A,  RASopathy/Noonan Spectrum Disorders Panel (31 genes) TAZ, TCAP, TNNT2, TPM1, TTN, VCL) (A2ML1, ACTB, ACTG1, BRAF, CBL, CDC42, HRAS, KAT6B, KRAS, LZTR1, o Reflex to deletion/duplication of all available genes on panel* MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTEN, PTPN11, RAF1, o Reflex to deletion/duplication of single gene(s) (specify):______RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, TBCK, TSC1, TSC2) ______ Parental blood provided for parental comparative analysis  Restrictive Cardiomyopathy (RCM) Panel (9 genes) (ACTC1, BAG3, CRYAB, DES, MYBPC3, MYH7, TNNI3, TNNT2, TTR) Familial information — required for parental comparative analysis o Reflex to deletion/duplication of all available genes on panel* Biological mother: o Reflex to deletion/duplication of single gene(s) (specify):______Name: ______DOB (MM/DD/YYYY): ______Clinical Feature(s): ______Congenital Heart Disease Panels o Congenital Heart Disease Panel (187 genes) Biological father: Name: ______(ABL1, ACTA2, ACTB, ACTC1, ACTG1, ACVR1, ACVR2B, ACVRL1, ADAMTS10, AK7, ALMS1, ANKS6, ARHGAP31, ARMC4, ATRX, B3GAT3, DOB (MM/DD/YYYY): ______BBS1, BBS10, BBS2, BCL9L, BCOR, BMPR2, BRAF, C21ORF59, CACNA1C, Clinical Feature(s): ______CBL, CCDC103, CCDC11, CCDC114, CCDC151, CCDC39, CCDC40,  Reflex to deletion/duplication of all available genes on panel* CCDC65, CCNO, CDK13, CENPF, CFAP300, CHD4, CHD7, CITED2,  Reflex to deletion/duplication of single gene(s) (specify):______COL2A1, CREBBP, CRELD1, CYR61, DHCR7, DNAAF1, DNAAF2, DNAAF3, ______DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DSG2, DSP, DTNA, EFTUD2, EIF2AK4, Other Panels ELN, ENG, EVC, EVC2, FBN1, FBN2, FGFR2, FLNA, FLNB, FOXC1, FOXC2,  Pulmonary Arterial Hypertension (PAH) Panel (20 genes) FOXF1, FOXH1, G6PC3, GAS2L2, GAS8, GATA4, GATA5, GATA6, GDF1, (ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, GGCX, KCNA5, GJA1, GJA5, GLI3, GPC3, HAND1, HES7, HRAS, HYDIN, INVS, JAG1, KCNK3, KLK1, NFU1, NOTCH1, NOTCH3, RASA1, SMAD4, SMAD9, KCNJ2, KIF7, KRAS, LEFTY2, LMNA, LRRC56, LRRC6, MAP2K1, MAP2K2, SOX17, TBX4, TOPBP1) MCIDAS, MED13L, MEGF8, MEIS2, MID1, MKKS, MKS1, MMP21, MRE11, o Reflex to deletion/duplication of all available genes on panel* MYCN, MYH6, NAT10, NEK8, NF1, NIPBL, NKX2-5, NKX2-6, NME8, o Reflex to deletion/duplication of single gene(s) (specify):______NODAL, NOTCH1, NOTCH2, NPHP3, NR2F2, NRAS, NSD1, NTRK3, OFD1, ______PIH1D3, PIK3R2, PITX2, PKD1L1, PKD2, PPP1CB, PQBP1, PRKD1, PRKG1, PRRX1, PTPN11, RAF1, RAI1, RBM10, RIT1, RSPH1, RSPH3, RSPH4A, RSPH9, Note: Single gene sequencing is available for all genes listed in the SALL4, SCN1B, SCN5A, SEMA3E, SHOC2, SHROOM3, SKI, SMAD2, next-generation panels through custom gene sequencing. SMAD6, SOS1, SOS2, , SOX7, SPAG1, SPEG, TAB2, TBX1, TBX20, TBX3, TBX5, TCAP, TCTN2, TFAP2B, TGDS, TGFB2, TGFBR2, TLL1, TTC25, TWIST1, UBR1, VCL, WDR35, ZFPM2, ZIC3, ZMPSTE24, ZMYND10, ZNF469) o Reflex to deletion/duplication of all available genes on panel* o Reflex to deletion/duplication of single gene(s) (specify):______†See page 5 for additional deletion/duplication information Patient Name: ______Date of Birth: ______

TEST(S) REQUESTED, CONTINUED

Individual Gene Sequencing Tests

o APOB (R3500Q/R3500W) o NKX2-5 Gene Sequencing o Targeted (family specific) variant analysis for ______gene Gene Sequencing o TAZ Gene Sequencing If testing was not performed at CCHMC, please include proband’s report o CAV3 Gene Sequencing o TBX1 Gene Sequencing and at least 100ng of proband’s DNA to use as a positive control. o DES Gene Sequencing o TBX5 Gene Sequencing Proband’s name ______o FBN1 Gene Sequencing o TGFBR1 Gene Sequencing o KCNJ2 Gene Sequencing Proband’s DOB ______o TGBFR2 Gene Sequencing o LDLR Gene Sequencing Proband’s variant ______o TNNT2 Gene Sequencing o MYBPC3 Gene Sequencing o TTN Gene Sequencing Please call 513-636-4474 to discuss any family-specific variant analysis o MYH7 Gene Sequencing o ZIC3 Gene Sequencing with genetic counselor prior to shipment.

CUSTOM GENE SEQUENCING DELETION AND DUPLICATION ASSAY Gene(s) to be sequenced (specify): ______Gene(s) to be analyzed (specify): ______Only genes with clear published functional relationship to rare diseases are accepted. Please see list of available genes at: www.cincinnatichildrens. org/deldup Suspected syndrome/ condition: ______Suspected syndrome/ condition: ______Please choose one of the following: Please choose one of the following: o o Full gene(s) sequencing Deletion and duplication analysis of gene(s) specified above o Deletion and duplication analysis of gene(s) specified above with reflex to o Full gene(s) sequencing with reflex to deletion and duplication analysis, sequencing, if indicated if indicated (please see list of genes available for del/dup at o www.cincinnatichildrens.org/deldup) Analysis of gene(s) specified above from previously analyzed deletion and duplication o Familial mutation analysis o Familial deletion analysis Proband’s name: ______Proband’s name: ______Proband’s DOB: ______Proband’s DOB: ______Proband’s mutation: ______Proband’s mutation: ______Patient’s relation to proband: ______Patient’s relation to proband: ______If testing was not performed at CCHMC, please include proband’s report If testing was not performed at CCHMC, please include proband’s report and at least 100ng of proband’s DNA to use as a positive control. and at least 100ng of proband’s DNA to use as a positive control.

†Targeted deletion and duplication analysis of every gene on this panel except A2ML1, ABCC9, ABL1, ACTA1, ACTA2, ACTG1, ACTN2, ACVR1, ACVR2B, AKAP9, ALPK3, ANKRD1, APOB (R3500Q/R3500W), ARHGAP31, BCL9L, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAV1, CAVIN4, CCDC114, CDC42, CDH2, CDK13, CHD4, CHRM2, COL5A2, CRYAB, CSRP3, CTNNA3, CYR61, DSG2, DTNA, FBXO32, FHL2, FOXE3, FOXH1, FXN, GATA5, GATAD1, GDF1, GDF2, GNB5, GPD1L, HAND1, HCN4, ILK, JPH2, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNJ5, KCNJ8, KCNK3, KCNQ3, KLK1, LAMA4, LDB3, LDLR, LEFTY2, LOX, LRRC10, LZTR1, MAP2K1, MAT2A, MCIDAS, MFAP5, MIB1, MID1, MRE11, MYH6, MYL2, MYL3, MYL4, MYLK2, MYOM1, MYPN, NAT10, NEBL, NOS1AP, NOTCH3, NTRK3, PDLIM3, PLEKHM2, PPA2, PPP1CB, PRKD1, PRKG1, PRRX1, PSEN1, PSEN2, RANGRF, RASA2, RBM20, RIT1, RRAS, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SDHA, SHROOM3, SKI, SLMAP, SMAD2, SMAD4, SMAD6, SMAD9, SNTA1, SOS2, SPEG, SYNE2, TCAP, TECRL, TFAP2B, TGFB3, TGFBR3, TLL1, TMEM43, TMPO, TNNC1, TNNI3K, TNNT2, TOPBP1, TRPM4, TTN, TTR, TXNRD2, VCL, WDR35 and ZMYND10 is clinically available at an additional charge.

Whole Exome Sequencing — Exome sequencing test requisition available at: www.cincinnatichildrens.org/exome BRV362612 3-21